MCID: MYP007
MIFTS: 20

Myopathy Due to Cpt Ii Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Myopathy Due to Cpt Ii Deficiency

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MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, is also known as carnitine palmitoyl transferase deficiency type 2, adult-onset form, and has symptoms including muscle anomalies, myopathy and muscle weakness/flaccidity. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2).

Description from OMIM:46 255110

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Myopathy Due to Cpt Ii Deficiency, Aliases & Descriptions:

Name: Myopathy Due to Cpt Ii Deficiency 46
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 48
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 48
 
Cptii, Adult-Onset Form 48
Cpt2, Adult-Onset Form 48
Cptii, Myopathic Form 48
Cpt2, Myopathic Form 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 255110
ICD10 via Orphanet26 E71.3

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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Symptoms for Myopathy Due to Cpt Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

Symptoms:

48 (show all 8)
  • muscle anomalies
  • myopathy
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • renal failure

HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

(show all 12)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 myopathy hallmark (90%) HP:0003198
3 myalgia hallmark (90%) HP:0003326
4 renal insufficiency typical (50%) HP:0000083
5 autosomal recessive inheritance HP:0000007
6 renal insufficiency HP:0000083
7 muscle weakness HP:0001324
8 myoglobinuria HP:0002913
9 rhabdomyolysis HP:0003201
10 myalgia HP:0003326
11 muscle cramps HP:0003394
12 muscle stiffness HP:0003552

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Drug clinical trials:

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Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

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Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

64 (show all 20)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Tyr628SerVAR_001398rs28936673
7CPT2p.Arg631CysVAR_001399
8CPT2p.Met214ThrVAR_007966
9CPT2p.Pro227LeuVAR_007967
10CPT2p.Phe448LeuVAR_007968
11CPT2p.Tyr479PheVAR_007969
12CPT2p.Arg503CysVAR_007970
13CPT2p.Gly549AspVAR_007971rs186044004
14CPT2p.Arg151GlnVAR_020540
15CPT2p.Tyr210AspVAR_020541
16CPT2p.Arg296GlnVAR_020542
17CPT2p.Gln550ArgVAR_020543
18CPT2p.Gly600ArgVAR_020544
19CPT2p.Pro604SerVAR_020545
20CPT2p.Asp213GlyVAR_037976

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
2CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
3CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
4CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
5CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
6CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
7CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
8CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
9CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Expression patterns in normal tissues for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Compounds for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Products for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Myopathy Due to Cpt Ii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet